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Expanding the clinical phenotype of individuals with a 3-bp..:
Koczkowska, Magdalena
;
Callens, Tom
;
Gomes, Alicia
...
10.1038/s41436-018-0269-0. , 2019
Link:
https://hdl.handle.net/1805/21546
RT Journal T1
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
UL https://suche.suub.uni-bremen.de/peid=base-ftiupui:oai:scholarworks.iupui.edu:1805_21546&Exemplar=1&LAN=DE A1 Koczkowska, Magdalena A1 Callens, Tom A1 Gomes, Alicia A1 Sharp, Angela A1 Chen, Yunjia A1 Hicks, Alesha D A1 Aylsworth, Arthur S A1 Azizi, Amedeo A A1 Basel, Donald G A1 Bellus, Gary A1 Bird, Lynne M A1 Blazo, Maria A A1 Burke, Leah W A1 Cannon, Ashley A1 Collins, Felicity A1 DeFilippo, Colette A1 Denayer, Ellen A1 Digilio, Maria C A1 Dills, Shelley K A1 Dosa, Laura A1 Greenwood, Robert S A1 Griffis, Cristin A1 Gupta, Punita A1 Hachen, Rachel K A1 Hernández-Chico, Concepción A1 Janssens, Sandra A1 Jones, Kristi J A1 Jordan, Justin T A1 Kannu, Peter A1 Korf, Bruce R A1 Lewis, Andrea M A1 Listernick, Robert H A1 Lonardo, Fortunato A1 Mahoney, Maurice J A1 Ojeda, Mayra Martinez A1 McDonald, Marie T A1 McDougall, Carey A1 Mendelsohn, Nancy A1 Miller, David T A1 Mori, Mari A1 Oostenbrink, Rianne A1 Perreault, Sebastién A1 Pierpont, Mary Ella A1 Piscopo, Carmelo A1 Pond, Dinel A A1 Randolph, Linda M A1 Rauen, Katherine A A1 Rednam, Surya A1 Rutledge, S. Lane A1 Saletti, Veronica A1 Schaefer, G. Bradley A1 Schorry, Elizabeth K A1 Scott, Daryl A A1 Shugar, Andrea A1 Siqveland, Elizabeth A1 Starr, Lois J A1 Syed, Ashraf A1 Trapane, Pamela L A1 Ullrich, Nicole J A1 Wakefield, Emily G A1 Walsh, Laurence E A1 Wangler, Michael F A1 Zackai, Elaine A1 Claes, Kathleen B. M A1 Wimmer, Katharina A1 van Minkelen, Rick A1 De Luca, Alessandro A1 Martin, Yolanda A1 Legius, Eric A1 Messiaen, Ludwine M PB Springer Nature YR 2019 K1 NF1 K1 p.Met992del K1 Genotype–phenotype correlation K1 Neurofibroma K1 Learning difficulties JF 10.1038/s41436-018-0269-0 LK http://dx.doi.org/https://hdl.handle.net/1805/21546 DO https://hdl.handle.net/1805/21546 SF ELIB - SuUB Bremen
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